Will Genetic Screening Become a Way of Life?

Next week, scientists from around the world will fly into Philadelphia to attend a two-day conference starting on March 18. If, 20 years ago, you had told any one of them what the conference would be about, chances are none of them would have believed you.

It would have read like science fiction.

The subject is genetic science — wild, rollicking, surprise-a-month genetic science. The kind that is churning out earth-shattering discoveries so fast that it's making medical textbooks, even some printed just two months before, out of date.

Or just flat wrong.

At the conference, "Therapeutic Insights from New Diabetes Gene Discoveries," the discoveries scientists will share on the subject of diabetes is about to turn treatment for the disease on its head. There aren't just two kinds of diabetes, as the medical textbooks instruct. It turns out there may be as many as 12. That means everything known about diabetes — what medicines work for it and what lifestyle changes help and what diet is best — may be about to change.

And it's not just diabetes treatment that's on the cusp of radical readjustment.

There have been similar international conferences, and more planned every day, on genetic breakthroughs in cancer, arthritis, macular degeneration, HIV, Alzheimer's, heart disease, mental illness, and the list goes on. And on and on and on. Genetic science is on a roll.

'I've Never Seen Anything This Rapid'

"This is going to be for the 21st century what the discovery of antibiotics was for the 20th century," Dr. Francis Collins of the National Institutes of Health said. And he should know — he helped guide science to this point.

Collins is, more specifically, the director of the National Human Genome Research Institute of the NIH. He led the massive "Human Genome Project," which presented the map of the entire human genome — the complete collection of DNA in a person's body — in 2003.

There were many people who doubted that map could ever be made. The expense was enormous: hundreds of millions of dollars. The surprises along the way ranged from exciting to overwhelming to stupefying to nearly catastrophic. But it got done, and medical scientists ever since have been building on that framework. As fast as they can.

"I've never seen anything this rapid," said Dr. Eric Topol, who leads the Scripps Genomic Medicine Program in California, among the dozens of research centers around the globe racing to unlock genetic answers to illness.

"The way we give medicine today will be considered the dark ages," he said. "What we are seeing right now, in the past year, is more breakthroughs in understanding the pathways of disease and health than we have had in many decades."

What has scientists nearly giddy about these discoveries is not just the potential for Nobel prizes and popularity and profit — although all of those, certainly, are much more likely in a specialty that has taken off like a rocket. What prompts most of them to use language such as "spectacular," "earth-shaking" and "revolutionary" is that their discoveries today are likely to completely alter medical care in the very near future. And change lives.

For instance, on the subject of diabetes: It is well known in the medical community that many of the drugs available to diabetics today are inconsistent. In other words, a drug may be enormously helpful to one diabetic, and of absolutely no help to another. In fact, it might even harm them.

Why? Theories abound, but the new breakthroughs in genome research are delivering fascinating answers: Genetic mutations in a person's body, it is now clear, are key. If you're a diabetic and you have a particular kind of gene, or a mutation of another kind of gene, your body won't respond to Medicine A. It will respond to Medicine B. Or to a medicine yet to be developed. And it might be that a low-fat diet won't help you at all but it will do wonders for the diabetic next-door. Your genes will guide you, Collins said.

Developing Specific Treatments

"Because what the study of the genome does, is it allows you to shine a bright light into why disease comes about," he said. "We've been sort of skirting around the edges of this but there's been a lot of fog in our understanding of the causes of illness. If you can understand it at the DNA level, you've really understood it." And that, he said, means real change.

"That gives you a chance to develop treatments for cancer or heart disease or diabetes which are not treating some secondary problem. They're going right to the heart of the matter."

It means that what's coming in medicine is custom medicine. At some point — and it could be 10 years or 15 years, but most agree it will likely be within 20 years — you will go into your doctor's office and, from a swab of your cheek, your doctor will get a readout of your entire genome. That doesn't happen now. Well, technically, it could. It would cost you about $300,000. But the NIH's Collins said that won't be a factor for long; the cost is plummeting by the month. "In another seven or eight years, it'll be down to a thousand dollars," he said.

And insurance might cover it. That's because from that genetic data, it is very likely that better, safer and potentially less expensive medical decisions can be made: how to keep your particular cancer in your own body from growing. How to find the precise blood pressure medicine that will work for you, so that you don't have to try six different prescriptions before you find the one that works. Or what lifestyle changes could actually help you and not just make you feel like you're giving up things you love for no good reason.

"In ten or fifteen years most visits to physicians will have a significantly different flavor because of the ability to incorporate this information about our own DNA instruction book," Collins said. "This is profound."

Using Genetics to Formulate an Intervention

That genome printout might also save your life. Already, science is capable of identifying a relatively few single genes known to cause very specific diseases: Huntington's disease, for instance. We also know that children born with a certain kind of gene can develop life-threatening metabolic disorders, for which treatments are already available. More and more, babies are already screened for that specific kind of gene.

Jana Monoco can tell you how important those screenings are. She knows that now. She didn't know, when her son Stephen was born 10 years ago, that he carried a gene that would trigger a disease that would send his body into full crisis when he was 3 years old, and would leave him brain-damaged for life. But when Monoco became pregnant with Stephen's little sister, Caroline, she knew all about that gene and had Caroline tested in the womb. Caroline had the gene. So Jana lined up a phalanx of specialists who rushed in the minute Caroline was born, started her on high-powered medication, and laid out a medical plan for her that has her, at age 7, healthy and happy.

"It was designed by the hour what to do with this baby once she was born," Monoco said, cradling Stephen, 10, as she administers his medicines. Caroline, 5, lovingly brought a toy to her older brother, who cannot speak. In that moment, the difference that a genetic test made in her life is startlingly clear. "We knew she could have a healthy normal life if she had that early intervention," Monoco said.

And that thought holds true for so many of us, on so many levels. Early intervention is key not only in treating disease, but in preventing it.

Health Screenings for Newborns?

That's where scientists are really hopeful They envision, in the not-too-distant future — maybe 20 years from now, maybe less — that the health screenings for newborn babies will include a full genome-scan, of all 20,000-plus genes in that baby's body. It could provide a kind of medical road-map for life, outlining which diseases are most likely to be a concern for that baby as it grows up. It could also tell doctors which medicines and treatments and screenings will work best for that child, as a child and then as an adult.

Topol, of the Scripps Genomic Medicine Program, believes that will make all the difference.

"Today," he explained, "we say every woman has to have a mammogram every year after age 40, and everyone should have a colonoscopy every five years," he said. " Well, that's crazy. What we should be saying is: Look, you have no risk of breast cancer so maybe we can just check it every ten years. Or, you should have a colonscopy every ten or twenty years, or never, because you don't have a risk of colon cancer."

And when the genetic tests show an elevated risk, he said, "those who have significant risk we will be able to track so much more precisely in a refined and elegant way."

That's exactly where Collins sees medicine heading.

"The whole idea here is to take medicine, which at the moment is the best we can do, sort of a generalized one-size-fits-all approach, and really make it appropriate for the individual," he said. "You wouldn't go to the shoe store and walk down the aisle and just grab any old pair of shoes without checking the size. But, you know, when you go to the hospital or the clinic or your doctor's office, that's kind of what's happening because that's all we've known how to do. All that is changing. I think in 10 or 15 or 20 years, we'll look back at 2008 and shake our heads and go, you know, how did you possibly think that was the right way to manage diabetes or cancer? Because things will be so different. We will finally shine a lot into these areas that have been so mysterious."

Topol is every bit as optimistic. Maybe more so. "This would be a good time right now to be born," he said.

As with all things in life, though — especially revolutionary technological breakthroughs — the picture isn't perfectly rosy. There are serious concerns to be addressed. Yes, it may be wonderful for your doctor to know all the medical hurdles you're likely to face in your life — but do you want your insurance company to know? Do you want potential employers to know?

And do you even want to know?

Money, Power and Ethics

Then there are the issues of money and power and patents and skullduggery, all of which can play into something as huge as a seismic shift in medical research and the health care that will follow it. Who will own this genetic information? What will they do with it? Will the high-tech genetic medicines that are developed in the wake of these discoveries — much of them from the foundation of publicly-funded research — be made available to all who need them at accessible prices? Or will profit muddy it all up?

Woven carefully through Collins' contagious enthusiasm is a very solid thread of caution. "Science provides knowledge," he said. "Knowledge doesn't have moral value, it's not good or evil, it's just information. It's what you decide to do with it that carries benefits or harms. Scientists are extremely excited right now about the ability to push this envelope faster than we ever have. But society has to get engaged as well, to figure out what are the right balances here between benefits and risks so that ultimately we do the most good."

So, at the Philadelphia conference this week, there is much to be discussed. Answers to medical mysteries are pouring out every week, and there are so many more to come — answers that are likely to have great consequences. What they will mean, precisely what they will change and how they will change it — well, that's unfolding. What is clear, though, is this: Those answers are coming faster than most of us can imagine.